Hypertryptophanemia

Preferred Label : Hypertryptophanemia;

Symbol : HYPTRP;

CISMeF acronym : HYPTRP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypertryptophanemia, familial;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tryptophan 2,3-dioxygenase gene (TDO2, 191070.0001);

Laboratory abnormalities : Normal to high urinary 5-hydroxyindoleacetic acid (5-HIAA) levels; Normal plasma melatonin level; Hyperserotonemia; Hypertryptophanemia;

Prefixed ID : #600627;

Details

Origin ID

600627;

UMLS CUI

C2931837;

Automatic exact mappings (from CISMeF team)
- Hypertryptophanemia [HPO term]
- familial hypertryptophanemia [DO Concept]
Currated CISMeF NLP mapping
- Familial hypertryptophanemia (disorder) [SNOMED CT concept]
- Hypertryptophanemia [ORDO Disease]
- hypertryptophanemia, familial [MeSH concept]
- hypertryptophanemia, familial [MeSH Supplementary Concept]
DO Cross reference
- familial hypertryptophanemia [DO Concept]
Genes related to phenotype
- Tryptophan 2,3-dioxygenase [OMIM gene]
HPO term(s)
- Adducted thumb [HPO term]
- Aggressive behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Camptodactyly of finger [HPO term]
- Depression [HPO term]
- Emotional lability [HPO term]
- Generalized joint laxity [HPO term]
- Global developmental delay [HPO term]
- Hypersexuality [HPO term]
- Hypertelorism [HPO term]
- Hypertryptophanemia [HPO term]
- Intellectual disability, moderate [HPO term]
- Limited elbow extension [HPO term]
- Myopia [HPO term]
- Pes planus [HPO term]
- Sensorineural hearing impairment [HPO term]
- Strabismus [HPO term]
- Stuttering [HPO term]
- Tryptophanuria [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Hypertryptophanemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial hypertryptophanemia (disorder) [SNOMED CT concept]
- Hypertryptophanemia [ORDO Disease]
- familial hypertryptophanemia [DO Concept]
- hypertryptophanemia, familial [MeSH concept]
- hypertryptophanemia, familial [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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